What is Floppy Syndrome ?

Floppy Syndrome is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The muscle weakness usually worsens with age.

Nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. 

Motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching (called fasciculations).

Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes